Mutational spectrum of NSDHL in CHILD syndrome.
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Biomedical subjects
Publications and source records attributed to A Poiares Baptista.
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From 1982 to 1992, 24 cases of eccrine porocarcinomas were recorded in our files. They always present as solitary well circumscribed nodules or plaques of 0.5 to 2 cm and they are mainly located on the face and the lower limbs in patients, predominantly females, aged of more than 5 decades. The average evolution time before diagnosis was 2 years; a case was observed in a 12-y-old patient with xeroderma pigmentosum. After surgical removal, only one local recurrence and one case with lymph node metastases were observed. The lesions showed two different histological types: the former is initially characterized by the intra-epidermal spreading of well circumscribed cell nests and by a secondary invasion of the dermis, the latter exhibits a trabecular pattern penetrating the dermis, sharing some microscopic aspects with the benign eccrine poroma. Whatever the histological type, the tumor is mainly built up by small cuboidal cells together with some large clear cells; the latter exhibit often atypias, which are focally distributed in the trabecular poroma-like variant. Dyskeratosis, malpighian metaplasia and necrotic comedo-like foci are frequently encountered. Ductal differentiation may be intracellular and occur together with focal keratinization. In one case with intra-epidermal cell islets, lymph node metastases showed the same cellular pattern; this superficial spreading type of porocarcinoma has the same malignant behaviour as the trabecular penetrating type. The eccrine porocarcinomas derive from the acrosyringeal cells: the ductal structures and the foci of keratinization express the epithelial membrane antigen (EMA), the carcino-embryonic antigen (CEA) and the alpha-lactalbumine related antigen; the tumor cells are S100 proteine negative.(ABSTRACT TRUNCATED AT 250 WORDS)
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The authors describe an observation of multiple keratoacanthomas appearing within 3 years, mainly located on the right forearm. Clear confluence and centrifugal extension, due to progressive appearance of surrounding lesions forming a 12 X 10 cm. ulcerated surface characterized this case. The topical application of 5-FU was effective, nevertheless further surrounding lesions have made their appearance. The clinico-pathological features and evolution are those of keratoacanthoma centrifugum marginatum , a rare type of multiple and localized keratoacanthoma.
Fourteen cases (9 female, 5 male) of proliferating trichilemmal cysts are reported. The patients age-range was 40-80, 12 being over 60. The cysts wee present for 2-50 years and enlarged in the months or years before the observation. Seven were ulcerated. In 4 with multiple lesions both proliferating and ordinary trichilemmal cysts were present. The histological features were typical in all but one patient (evolution towards squamous cell carcinoma?) with some variation from lesion to lesion and from area to area in the same tumour. The microscopic features suggest that the proliferating trichilemmal cyst must be considered an hamartoma of the terminal hair follicle, not only related to the isthmic segment of the outer root sheath but with some differentiation (smaller and more variable) towards the infundibular and matricial segments. The tumour is likely to be a proliferating trichilemmal cyst from the beginning and not a peculiar evolution of an ordinary, pre-existant, trichilemmal cyst.
Perineural tumoral invasion, usually considered as an histological sign of malignancy, may be seen in clinically and histological typical keratoacanthoma in every phase of evolution. The authors present 8 cases, among a collection of almost 300 keratoacanthomas, localized on the face, 3 in the proliferative phase, 3 at a state of maturation and 2 in plain regression. Sometimes perineural invasion is associated with other cellular anomalies and infiltration of the muscular layers. All the lesions were chirurgically excised without recurrence after a 4 months to 3 years follow-up. Perineural tumoral invasion may be considered as an image of pseudo-malignancy.
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